acatalasia
Information
- Disease name
- acatalasia
- Disease ID
- DOID:2582
- Description
- "A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13." [url:https\://pubmed.ncbi.nlm.nih.gov/1999334/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:906
- Cross Reference ID (Disease Ontology)
- GARD:363
- Cross Reference ID (Disease Ontology)
- MESH:D020642
- Cross Reference ID (Disease Ontology)
- MIM:614097
- Cross Reference ID (Disease Ontology)
- NCI:C84526
- Cross Reference ID (Disease Ontology)
- ORDO:926
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:190954001
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0268419
- Exact Synonym (Disease Ontology)
- acatalasemia
- Exact Synonym (Disease Ontology)
- deficiency of catalase
- MeSH unique ID (MeSH (Medical Subject Headings))
- D020642